遗传性乳腺癌-卵巢癌综合征

Hereditary breast and/or ovarian cancer syndrome

ORPHA:145疾病

定义英文原文（暂无中文）

A genetic condition characterized by hereditary susceptibility to breast and/or ovarian cancer. It can be defined using family history criteria, or through identification of germline pathogenic variants (GPVs) in clinically validated HBOC genes. However, the genetic basis of about half of clinical HBOC is currently unknown or unexplained by single-gene variants, and approximately half of individuals who harbour PVs in HBOC genes do not have a suggestive family history.

基本事实

遗传方式: 常染色体显性
发病年龄: 成年期、老年期

相关基因 15

基因	名称	关联类型
PTEN	phosphatase and tensin homolog	Candidate gene tested in
RAD51	RAD51 recombinase	Candidate gene tested in
BRCA1	BRCA1 DNA repair associated	Disease-causing germline mutation(s) (loss of function) in
BRCA2	BRCA2 DNA repair associated	Disease-causing germline mutation(s) (loss of function) in
BRIP1	BRCA1 interacting DNA helicase 1	Candidate gene tested in
CHEK2	checkpoint kinase 2	Candidate gene tested in
TP53	tumor protein p53	Candidate gene tested in
ATM	ATM serine/threonine kinase	Major susceptibility factor in
MRE11	MRE11 double strand break repair nuclease	Candidate gene tested in
NBN	nibrin	Candidate gene tested in
PALB2	partner and localizer of BRCA2	Candidate gene tested in
BARD1	BRCA1 associated RING domain 1	Candidate gene tested in
RAD51C	RAD51 paralog C	Disease-causing germline mutation(s) in
RAD50	RAD50 double strand break repair protein	Candidate gene tested in
RAD51D	RAD51 paralog D	Disease-causing germline mutation(s) in

临床表型 7

极常见 99–80%3

输卵管形态异常 HP:0011027
卵巢肿瘤 HP:0100615
原发性腹膜癌 HP:0030406

常见 79–30%1

乳腺癌 HP:0003002

偶见 29–5%3

黑色素瘤 HP:0002861
胰腺肿瘤 HP:0002894
前列腺癌 HP:0012125

外部标识与链接

Orphanet OMIM:114480 OMIM:604370 OMIM:612555 MONDO:0003582ICD-10 C50.9、C56ICD-11 2C65ClinicalTrials.gov 检索

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本页数据来源

疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
中文病名：Orphanet 中文包，冻结于 2020-06-01
表型中文标签：HPO 简体中文翻译（CHPO 上游成果）